Literature DB >> 31151786

From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations.

Roberto Erro1, Marina Picillo2, Renzo Manara2, Maria Teresa Pellecchia2, Paolo Barone2.   

Abstract

Entities:  

Keywords:  Dystonia; Hereditary spastic paraplegia; Kufor Rakeb syndrome; Neuronal ceroid lipofuscinosis; Parkinsonism

Mesh：

Substances：

Year:  2019        PMID： 31151786     DOI： 10.1016/j.parkreldis.2019.05.025

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  3 in total

1.  Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene.

Authors:  Hussein Algahtani; Bader Shirah; Salem Alshammari; Fareeda Alghamdi; Angham Abdulrhman Abdulkareem; Muhammad Imran Naseer
Journal:  Mov Disord Clin Pract       Date:  2022-07-12

2.  Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.

Authors:  Yasuko Odake; Kishin Koh; Yoshihisa Takiyama; Hiroyuki Ishiura; Shoji Tsuji; Masahito Yamada; Mitsuhiro Yoshita
Journal:  Neurol Genet       Date:  2020-09-08

3.  Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

Authors:  Mehrdad A Estiar; Etienne Leveille; Dan Spiegelman; Nicolas Dupre; Jean-François Trempe; Guy A Rouleau; Ziv Gan-Or
Journal:  Mol Genet Genomic Med       Date:  2020-01-15       Impact factor: 2.183
  3 in total

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